Variant report

Variant	rs206812
Chromosome Location	chr2:31637869-31637870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:31637552-31637995	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr2:31637517-31638146	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:31637574-31638225	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
4	FOS	chr2:31637496-31638463	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
5	MYC	chr2:31637516-31638166	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr2:31637635-31638002	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:31637543-31637982	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr2:31637635-31637977	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr2:31637576-31637918	T-47D	breast:	n/a	n/a
10	POLR2A	chr2:31636222-31638028	MCF10A-Er-Src	breast:	n/a	n/a
11	SP1	chr2:31637543-31638208	A549	lung:	n/a	chr2:31637647-31637668
12	STAT3	chr2:31637501-31638149	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA2	chr2:31637500-31638085	A549	lung:	n/a	n/a
14	STAT3	chr2:31637554-31638342	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr2:31637092-31638016	A549	lung:	n/a	n/a
16	CTCF	chr2:31637840-31637990	NHEK	skin:	n/a	n/a
17	FOS	chr2:31637515-31638440	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
18	FOXA2	chr2:31637464-31638115	A549	lung:	n/a	n/a
19	FOXA1	chr2:31637603-31637883	T-47D	breast:	n/a	chr2:31637727-31637742
20	FOS	chr2:31637556-31638433	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
21	FOXA1	chr2:31637543-31637914	T-47D	breast:	n/a	chr2:31637727-31637742

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:31637849-31637899	HCF	heart:	n/a
2	chr2:31637849-31637899	PrEC	prostate:	n/a
3	chr2:31637849-31637899	HCT-116	colon:	n/a
4	chr2:31637849-31637899	SKMC	muscle:	n/a
5	chr2:31637849-31637899	Hepatocyte	liver:	n/a
6	chr2:31637849-31637899	AG04449	skin:	fetal
7	chr2:31637849-31637899	NHDF-neo	bronchial:	n/a
8	chr2:31637849-31637899	SAEC	small airway:	n/a
9	chr2:31637849-31637899	HCM	heart:	n/a
10	chr2:31637849-31637899	HAEpiC	amniotic membrane:	n/a
11	chr2:31637849-31637899	NHBE	bronchial:	n/a
12	chr2:31637849-31637899	AG09309	skin:	n/a
13	chr2:31637849-31637899	GM06990	blood:	n/a
14	chr2:31637849-31637899	ECC-1	luminal epithelium:	n/a
15	chr2:31637849-31637899	AG04450	lung:	fetal
16	chr2:31637849-31637899	CMK	blood:	n/a
17	chr2:31637849-31637899	MCF10A-Er-Src	breast:	n/a
18	chr2:31637849-31637899	HepG2	liver:	n/a
19	chr2:31637849-31637899	HUVEC	blood vessel:	n/a
20	chr2:31637849-31637899	PFSK-1	brain:	n/a
21	chr2:31637849-31637899	NB4	blood:	n/a
22	chr2:31637849-31637899	HEK293	kidney:	embryo
23	chr2:31637849-31637899	HCPEpiC	choroid plexus:	n/a
24	chr2:31637849-31637899	HEEpiC	esophagus:	n/a
25	chr2:31637849-31637899	PANC-1	pancreas:	n/a
26	chr2:31637849-31637899	ovcar-3	ovarian:	n/a
27	chr2:31637849-31637899	HL-60	blood:	n/a
28	chr2:31637849-31637899	K562	blood:	n/a
29	chr2:31637849-31637899	SK-N-SH	brain:	n/a
30	chr2:31637849-31637899	HRE	kidney:	n/a
31	chr2:31637849-31637899	U87	brain:	n/a
32	chr2:31637849-31637899	HMEC	breast:	n/a
33	chr2:31637849-31637899	GM12892	blood:	n/a
34	chr2:31637849-31637899	BJ	skin:	n/a
35	chr2:31637849-31637899	HIPEpiC	eye:	n/a
36	chr2:31637849-31637899	Hela-S3	cervix:	n/a
37	chr2:31637849-31637899	NH-A	brain:	n/a
38	chr2:31637849-31637899	AG10803	skin:	n/a
39	chr2:31637849-31637899	LNCaP	prostate:	n/a
40	chr2:31637849-31637899	A549	lung:	n/a
41	chr2:31637849-31637899	GM12891	blood:	n/a
42	chr2:31637849-31637899	NT2-D1	testis:	n/a
43	chr2:31637849-31637899	RPTEC	kidney:	n/a
44	chr2:31637849-31637899	AoSMC	blood vessel:	n/a
45	chr2:31637849-31637899	Caco-2	colon:	n/a
46	chr2:31637849-31637899	GM12878	blood:	n/a
47	chr2:31637849-31637899	AG09319	gingival:	n/a
48	chr2:31637849-31637899	SK-N-SH_RA	brain:	n/a
49	chr2:31637849-31637899	SK-N-MC	brain:	n/a
50	chr2:31637849-31637899	IMR90	lung:	fetal

No data

Variant related genes	Relation type
XDH	TF binding region
XDH	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1033689	0.82[EUR][1000 genomes]
rs11124261	0.82[EUR][1000 genomes]
rs11674100	0.86[EUR][1000 genomes]
rs11679875	0.84[EUR][1000 genomes]
rs12468955	0.82[EUR][1000 genomes]
rs12469125	0.81[EUR][1000 genomes]
rs17545483	0.82[EUR][1000 genomes]
rs17604831	0.82[EUR][1000 genomes]
rs1884723	0.84[EUR][1000 genomes]
rs1978639	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs206806	0.95[ASN][1000 genomes]
rs206808	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206811	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs206816	0.95[ASN][1000 genomes]
rs206827	0.89[ASN][1000 genomes]
rs2163058	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2365772	0.85[EUR][1000 genomes]
rs28879135	0.82[EUR][1000 genomes]
rs4952236	0.85[EUR][1000 genomes]
rs4952251	0.81[EUR][1000 genomes]
rs4952263	0.87[EUR][1000 genomes]
rs56247470	0.82[EUR][1000 genomes]
rs58071748	0.89[EUR][1000 genomes]
rs59770035	0.81[EUR][1000 genomes]
rs59964343	0.81[EUR][1000 genomes]
rs61706447	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66492775	0.83[EUR][1000 genomes]
rs67830899	0.84[EUR][1000 genomes]
rs7595578	0.84[EUR][1000 genomes]
rs7602067	0.87[EUR][1000 genomes]
rs9636426	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:31634400-31638000	Active TSS	Fetal Intestine Large	intestine
3	chr2:31634600-31639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:31635600-31638200	Flanking Active TSS	NHEK	skin
5	chr2:31636200-31638200	Flanking Active TSS	HMEC	breast
6	chr2:31636200-31638800	Enhancers	NHDF-Ad	bronchial
7	chr2:31636600-31638000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:31636600-31638200	Enhancers	Placenta	Placenta
9	chr2:31637000-31638400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:31637000-31638400	Enhancers	Hela-S3	cervix
11	chr2:31637200-31638000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:31637200-31638000	Enhancers	Esophagus	oesophagus
13	chr2:31637200-31638200	Enhancers	Pancreas	Pancrea
14	chr2:31637200-31638200	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:31637200-31638800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:31637200-31638800	Enhancers	Gastric	stomach
17	chr2:31637200-31639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:31637400-31638200	Enhancers	Brain Anterior Caudate	brain
19	chr2:31637400-31639600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:31637600-31638000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:31637600-31638000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:31637600-31638000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:31637600-31638000	Active TSS	Stomach Mucosa	stomach
24	chr2:31637600-31638000	Bivalent Enhancer	HepG2	liver
25	chr2:31637600-31638200	Flanking Active TSS	A549	lung
26	chr2:31637600-31638400	Weak transcription	Colonic Mucosa	Colon
27	chr2:31637600-31639400	Enhancers	NHLF	lung
28	chr2:31637600-31639600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:31637600-31640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:31637800-31638000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:31637800-31638000	Enhancers	HSMMtube	muscle
32	chr2:31637800-31638200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:31637800-31638200	Flanking Active TSS	Liver	Liver
34	chr2:31637800-31638200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr2:31637800-31638200	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr2:31637800-31639000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:31637800-31639200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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